U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    PIERCE1 piercer of microtubule wall 1 [ Homo sapiens (human) ]

    Gene ID: 138162, updated on 2-Nov-2024

    Summary

    Official Symbol
    PIERCE1provided by HGNC
    Official Full Name
    piercer of microtubule wall 1provided by HGNC
    Primary source
    HGNC:HGNC:28435
    See related
    Ensembl:ENSG00000160345 MIM:614502; AllianceGenome:HGNC:28435
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RbEST47; C9orf116
    Summary
    Predicted to be involved in axoneme assembly; establishment of left/right asymmetry; and flagellated sperm motility. Predicted to act upstream of or within DNA damage response; cellular response to UV-C; and regulation of gene expression. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 17.0), lung (RPKM 3.3) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PIERCE1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135495181..135499869, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147723256..147727947, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138387027..138391715, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PPP1R26 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138356815-138357468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20484 Neighboring gene protein phosphatase 1 regulatory subunit 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138380833-138381544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382256-138382966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382967-138383677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20487 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:138392753-138393377 Neighboring gene uncharacterized LOC101928525 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138396029-138396183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138397212-138398185 Neighboring gene mitochondrial ribosomal protein S2 Neighboring gene NANOG hESC enhancer GRCh37_chr9:138403278-138403841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138406747-138407428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138408918-138409418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138409419-138409919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138416151-138417034 Neighboring gene lipocalin 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13945, MGC29761, RP11-426A6.4

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to UV-C IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    piercer of microtubule wall 1 protein
    Names
    UPF0691 protein C9orf116
    p53-induced expression 1 in Rb-/- cells
    p53-induced expression 1 in Rba^'/a^' cells
    p53-induced expression in RB-null cells protein 1
    pierce 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001048265.2NP_001041730.1  piercer of microtubule wall 1 protein isoform 1

      See identical proteins and their annotated locations for NP_001041730.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI367252, AY927868, DR003074
      Consensus CDS
      CCDS43899.1
      UniProtKB/Swiss-Prot
      Q5BN46, Q5T897, Q8WU44
      Related
      ENSP00000395281.2, ENST00000429260.7
      Conserved Domains (1) summary
      pfam14892
      Location:9106
      DUF4490; Domain of unknown function (DUF4490)
    2. NM_144654.3NP_653255.1  piercer of microtubule wall 1 protein isoform 2

      See identical proteins and their annotated locations for NP_653255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC021261
      Consensus CDS
      CCDS6989.1
      UniProtKB/Swiss-Prot
      Q5BN46
      Related
      ENSP00000360854.3, ENST00000371789.7
      Conserved Domains (1) summary
      pfam14892
      Location:976
      DUF4490; Domain of unknown function (DUF4490)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      135495181..135499869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      147723256..147727947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)